Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03370:Fndc3c1'

420251

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc3c1

Ensembl Gene

ENSMUSG00000033737

Gene Name

fibronectin type III domain containing 3C1

Synonyms

LOC333564

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

105463647-105529007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105464307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1277 (T1277I)

Ref Sequence

ENSEMBL: ENSMUSP00000038678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039447]

AlphaFold

Q6DFV6

Predicted Effect

probably benign
Transcript: ENSMUST00000039447
AA Change: T1277I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: T1277I

Domain	Start	End	E-Value	Type
low complexity region	182	195	N/A	INTRINSIC
Blast:FN3	200	303	8e-10	BLAST
low complexity region	308	332	N/A	INTRINSIC
low complexity region	338	353	N/A	INTRINSIC
FN3	449	537	2.64e-1	SMART
FN3	551	631	2.42e-9	SMART
FN3	646	728	1.37e-8	SMART
FN3	743	827	1.11e-3	SMART
FN3	915	994	3.42e-9	SMART
FN3	1015	1090	5.48e-8	SMART
FN3	1104	1185	2.48e-6	SMART
FN3	1200	1278	1.9e-2	SMART
low complexity region	1298	1313	N/A	INTRINSIC
transmembrane domain	1333	1355	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	G	4: 56,741,173 (GRCm39)	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,829,881 (GRCm39)	I296T	probably damaging	Het
Col14a1	A	G	15: 55,351,937 (GRCm39)		probably null	Het
Daam2	G	T	17: 49,793,529 (GRCm39)	D329E	probably benign	Het
Defb26	A	G	2: 152,349,902 (GRCm39)	V126A	probably benign	Het
Fasn	A	T	11: 120,703,621 (GRCm39)	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,384,219 (GRCm39)	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,575,087 (GRCm39)	I13L	probably damaging	Het
Fggy	A	T	4: 95,710,301 (GRCm39)	H300L	probably damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,742,946 (GRCm39)	R567H	probably benign	Het
Kpna6	G	A	4: 129,549,314 (GRCm39)	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931 (GRCm39)	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,297,219 (GRCm39)	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,437,385 (GRCm39)	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,418,514 (GRCm39)	R3820L	probably benign	Het
Mus81	A	G	19: 5,534,991 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,230,653 (GRCm39)	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,249,685 (GRCm39)	V29D	probably damaging	Het
Plch2	T	C	4: 155,071,371 (GRCm39)	S244G	probably benign	Het
Rapgef5	C	A	12: 117,694,294 (GRCm39)	T372K	probably damaging	Het
Rb1	A	G	14: 73,520,306 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,586,944 (GRCm39)	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 80,895,855 (GRCm39)		probably null	Het
Slc38a1	C	T	15: 96,477,228 (GRCm39)	V362I	possibly damaging	Het
Sun1	T	A	5: 139,216,886 (GRCm39)	D308E	probably damaging	Het
Tns1	C	T	1: 74,025,053 (GRCm39)	V387M	probably damaging	Het
Ttn	C	A	2: 76,582,083 (GRCm39)	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,725,641 (GRCm39)	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,607,265 (GRCm39)	F153L	probably benign	Het

Other mutations in Fndc3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Fndc3c1	APN	X	105,489,383 (GRCm39)	missense	probably benign
IGL01408:Fndc3c1	APN	X	105,476,378 (GRCm39)	missense	probably benign	0.45
IGL01518:Fndc3c1	APN	X	105,475,029 (GRCm39)	missense	probably damaging	1.00
IGL01718:Fndc3c1	APN	X	105,489,534 (GRCm39)	missense	probably benign
IGL02143:Fndc3c1	APN	X	105,516,340 (GRCm39)	splice site	probably benign
IGL02214:Fndc3c1	APN	X	105,469,435 (GRCm39)	missense	probably benign	0.16
IGL03192:Fndc3c1	APN	X	105,479,922 (GRCm39)	splice site	probably null
IGL03199:Fndc3c1	APN	X	105,479,993 (GRCm39)	missense	possibly damaging	0.86
R0644:Fndc3c1	UTSW	X	105,478,568 (GRCm39)	missense	probably benign	0.14
R0714:Fndc3c1	UTSW	X	105,468,972 (GRCm39)	nonsense	probably null
R1928:Fndc3c1	UTSW	X	105,477,128 (GRCm39)	missense	probably benign	0.28
R1998:Fndc3c1	UTSW	X	105,464,311 (GRCm39)	missense	probably benign	0.01
R1999:Fndc3c1	UTSW	X	105,464,311 (GRCm39)	missense	probably benign	0.01
R4110:Fndc3c1	UTSW	X	105,487,897 (GRCm39)	missense	probably benign	0.07
R4785:Fndc3c1	UTSW	X	105,481,308 (GRCm39)	missense	possibly damaging	0.87
R6623:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
R7173:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
R7208:Fndc3c1	UTSW	X	105,478,679 (GRCm39)	missense	possibly damaging	0.55
Z1176:Fndc3c1	UTSW	X	105,477,935 (GRCm39)	missense	not run

Posted On

2016-08-02